DiGeorge syndrome/velocardiofacial syndrome: the chromosome 22q11.2 deletion syndrome.

Abstract:

:Chromosome 22q11.2 deletion (CH22qD) syndrome is also known as DiGeorge syndrome or velocardiofacial syndrome. This deletion syndrome is extremely common with nearly one in 4000 children being affected. Recent advances and a holistic approach to patients have improved the care and well-being of these patients. This review will summarize advances in understanding the health needs and immune system of patients with CH22qD syndrome. Patients will most often need interventions directed at maximizing function for many organ systems but can ultimately have a high level of functioning.

journal_name

Adv Exp Med Biol

authors

Sullivan KE

doi

10.1007/978-0-387-72005-0_4

subject

Has Abstract

pub_date

2007-01-01 00:00:00

pages

37-49

eissn

0065-2598

issn

2214-8019

journal_volume

601

pub_type

杂志文章,评审
  • Small Angle Scattering: Historical Perspective and Future Outlook.

    abstract::Small angle scattering (SAS) is a powerful and versatile tool to elucidate the structure of matter at the nanometer scale. Recently, the technique has seen a tremendous growth of applications in the field of structural molecular biology. Its origins however date back to almost a century ago and even though the methods...

    journal_title:Advances in experimental medicine and biology

    pub_type: 历史文章,杂志文章,评审

    doi:10.1007/978-981-10-6038-0_1

    authors: Weiss TM

    更新日期:2017-01-01 00:00:00

  • Druggable Lysophospholipid Signaling Pathways.

    abstract::Lysophosphatidic acid (LPA) has major roles as a bioactive signaling molecule, with multiple physiological and pathological roles being described in almost every major organ system. In this review we discuss LPA signaling pathways as emerging drug targets for multiple conditions relevant to human health and disease. L...

    journal_title:Advances in experimental medicine and biology

    pub_type: 杂志文章,评审

    doi:10.1007/978-3-030-50621-6_7

    authors: Yanagida K,Valentine WJ

    更新日期:2020-01-01 00:00:00

  • cGAS-STING Activation in the Tumor Microenvironment and Its Role in Cancer Immunity.

    abstract::Stimulator of interferon (IFN) genes (STING) is a key mediator in the immune response to cytoplasmic DNA sensed by cyclic GMP-AMP (cGAMP) synthase (cGAS). After synthesis by cGAS, cGAMP acts as a second messenger activating STING in the cell harboring cytoplasmic DNA but also in adjacent cells through gap junction tra...

    journal_title:Advances in experimental medicine and biology

    pub_type: 杂志文章,评审

    doi:10.1007/978-981-10-5987-2_8

    authors: Pépin G,Gantier MP

    更新日期:2017-01-01 00:00:00

  • Using isolated rat kidney to discover kidney origin biomarkers in urine.

    abstract::The use of targeted proteomics to identify urinary biomarkers of kidney disease in urine can avoid the interference of serum proteins. It may provide better sample throughput, higher sensitivity, and specificity. Knowing which urinary proteins to target is essential for targeted proteomics. In perfusates, there were p...

    journal_title:Advances in experimental medicine and biology

    pub_type: 杂志文章

    doi:10.1007/978-94-017-9523-4_17

    authors: Jia L

    更新日期:2015-01-01 00:00:00

  • It's Not the Destination, It's the Journey: Heterogeneity in mRNA Export Mechanisms.

    abstract::The process of creating a translation-competent mRNA is highly complex and involves numerous steps including transcription, splicing, addition of modifications, and, finally, export to the cytoplasm. Historically, much of the research on regulation of gene expression at the level of the mRNA has been focused on either...

    journal_title:Advances in experimental medicine and biology

    pub_type: 杂志文章,评审

    doi:10.1007/978-3-030-31434-7_2

    authors: Scott DD,Aguilar LC,Kramar M,Oeffinger M

    更新日期:2019-01-01 00:00:00

  • Nucleotide sequence of the porcine transmissible gastroenteritis coronavirus matrix protein gene.

    abstract::cDNA clones mapping within the first 2601 bases of the 3' end of the TGEV genome were sequenced completely or in part by the method of Maxam and Gilbert and open reading frames were examined. One reading frame yielding a protein having properties of the matrix (M) protein was identified. It is positioned at the immedi...

    journal_title:Advances in experimental medicine and biology

    pub_type: 杂志文章

    doi:10.1007/978-1-4684-1280-2_13

    authors: Kapke PA,Tung FY,Brian DA,Woods RD,Wesley R

    更新日期:1987-01-01 00:00:00

  • Passive immunization with antisera to Streptococcus mutans in the prevention of caries in rhesus monkeys.

    abstract::1) The immunological mechanism of protection against dental caries has been investigated by passive immunization with antisera to S. mutans in the rhesus monkey. 2) Passive immunization with separated IgG, IgM and IgA from sera of immunized monkeys supports the concept that IgG, unlike IgA or IgM antibodies are protec...

    journal_title:Advances in experimental medicine and biology

    pub_type: 杂志文章

    doi:10.1007/978-1-4684-3369-2_35

    authors: Lehner T,Russell MW,Wilton JM,Challacombe SJ,Scully CM,Hawkes JE

    更新日期:1978-01-01 00:00:00

  • Rare Diseases Related with Lipoprotein Metabolism.

    abstract::Rare diseases are gathering increasing attention in last few years, not only for its effects on innovation scientific research, but also for its propounding influence on common diseases. One of the most famous milestones made by Michael Brown and Joseph Goldstein in metabolism field is the discovery of the defective g...

    journal_title:Advances in experimental medicine and biology

    pub_type: 杂志文章,评审

    doi:10.1007/978-981-15-6082-8_11

    authors: Zhou H,Gong Y,Wu Q,Ye X,Yu B,Lu C,Jiang W,Ye J,Fu Z

    更新日期:2020-01-01 00:00:00

  • Cytogenetics of melanoma and nonmelanoma skin cancer.

    abstract::Cytogenetic analysis of melanoma and nonmelanoma skin cancers has revealed recurrent aberrations, the frequency of which is reflective of malignant potential. Highly aberrant karyotypes are seen in melanoma, squamous cell carcinoma, solar keratosis and Merkel cell carcinoma with more stable karyotypes seen in basal ce...

    journal_title:Advances in experimental medicine and biology

    pub_type: 杂志文章,评审

    doi:10.1007/978-0-387-77574-6_18

    authors: Carless MA,Griffiths LR

    更新日期:2008-01-01 00:00:00

  • Evaluation of the State of Transplanted Liver Health by Monitoring of Organ-Specific Genomic Marker in Circulating DNA from Receptor.

    abstract::The evaluation of the transplanted liver health by non-invasive approaches may offer an improvement in early clinical intervention. As transplanted organs have genomes that are distinct from the host's genome, the quantification of the specific DNA of the donated liver in the patient serum will allow us to obtain info...

    journal_title:Advances in experimental medicine and biology

    pub_type: 杂志文章

    doi:10.1007/978-3-319-42044-8_22

    authors: Macher HC,Suárez-Artacho G,Jiménez-Arriscado P,Álvarez-Gómez S,García-Fernández N,Guerrero JM,Molinero P,Trujillo-Arribas E,Gómez-Bravo MA,Rubio A

    更新日期:2016-01-01 00:00:00

  • Modelling stochastic transmission processes in helminth infections.

    abstract::The number of helminths within a host can only increase by the host encountering additional infectious stages, so it is important to consider not only whether a host is infected, but also the severity of its infection. Stochastic models consider explicitly the number of parasites within the host and treat infection, d...

    journal_title:Advances in experimental medicine and biology

    pub_type: 杂志文章,评审

    doi:10.1007/978-1-4419-6064-1_5

    authors: Cornell SJ

    更新日期:2010-01-01 00:00:00

  • Modeling of testosterone regulation by pulse-modulated feedback.

    abstract::The continuous part of a hybrid (pulse-modulated) model of testosterone (Te) feedback regulation in the human male is extended with infinite-dimensional and nonlinear blocks, to obtain the dynamics that better agree with the hormone concentration profiles observed in clinical data. A linear least-squares based optimiz...

    journal_title:Advances in experimental medicine and biology

    pub_type: 杂志文章

    doi:10.1007/978-3-319-10984-8_2

    authors: Mattsson P,Medvedev A

    更新日期:2015-01-01 00:00:00

  • V(D)J recombination deficiencies.

    abstract::V(D)J recombination not only comprises the molecular mechanism that insures diversity of the immune system but also constitutes a critical checkpoint in the developmental program of B- and T-lymphocytes. The analysis of human patients with Severe Combined Immune Deficiency (SCID) has contributed to the understanding o...

    journal_title:Advances in experimental medicine and biology

    pub_type: 杂志文章,评审

    doi:10.1007/978-1-4419-0296-2_4

    authors: de Villartay JP

    更新日期:2009-01-01 00:00:00

  • Measurement of cerebral tissue oxygenation in young healthy volunteers during acetazolamide provocation: a transcranial Doppler and near-infrared spectroscopy investigation.

    abstract::Recent advances in near-infrared spectroscopy (NIRS) allow measurements of absolute tissue oxygen saturation (TOI) using spatially resolved spectroscopy (SRS), while enabling better depth sensitivity. However concerns remain regarding the relative contribution of the extracranial circulation to the cerebral NIRS TOI s...

    journal_title:Advances in experimental medicine and biology

    pub_type: 杂志文章

    doi:10.1007/978-0-387-74911-2_43

    authors: Tachtsidis I,Tisdall M,Delpy DT,Smith M,Elwell CE

    更新日期:2008-01-01 00:00:00

  • Primary Extragastrointestinal Stromal Tumours in the Hepatobiliary Tree and Telocytes.

    abstract::The first decade of the twenty-first century witnessed the presence and light microscopic, immunophenotypic, and ultrastructural characterization of interstitial Cajal-like cells (coined as 'telocytes') in virtually every extragastrointestinal site of the human body by Laurentiu M. Popescu and his co-workers. Not surp...

    journal_title:Advances in experimental medicine and biology

    pub_type: 杂志文章

    doi:10.1007/978-981-10-1061-3_14

    authors: Padhi S,Nayak HK

    更新日期:2016-01-01 00:00:00

  • Tight Interplay Between Therapeutic Monoclonal Antibodies and the Tumour Microenvironment in Cancer Therapy.

    abstract::Therapeutic monoclonal antibodies (mAb) have changed the landscape of cancer therapy. With advances in the understanding of tumour biology and its microenvironment, different categories of mAbs have been developed; a first category is directed against tumour cells themselves, a second one comprises antibodies blocking...

    journal_title:Advances in experimental medicine and biology

    pub_type: 杂志文章

    doi:10.1007/978-3-030-50224-9_9

    authors: Riller Q,Varthaman A,Sibéril S

    更新日期:2020-01-01 00:00:00

  • Differential gene regulation in Yersinia pestis versus Yersinia pseudotuberculosis: effects of hypoxia and potential role of a plasmid regulator.

    abstract::The molecular basis of the biological differences between Yersinia pestis and Yersinia pseudotuberculosis remains largely unknown, and relatively little is known about environmental regulation of gene expression in these bacteria. We used a proteomic approach to explore the regulatory response of each bacterium to car...

    journal_title:Advances in experimental medicine and biology

    pub_type: 杂志文章,评审

    doi:10.1007/978-0-387-72124-8_11

    authors: Bai G,Smith E,Golubov A,Pata J,McDonough KA

    更新日期:2007-01-01 00:00:00

  • Metalloproteinase Changes in Diabetes.

    abstract::Matrix metalloproteinases (MMPs) constitute a group of over 20 structurally-related proteins which include a Zn(++) ion binding site that is essential for their proteolytic activities. These enzymes play important role in extracellular matrix turnover in order to maintain a proper balance in its synthesis and degradat...

    journal_title:Advances in experimental medicine and biology

    pub_type: 杂志文章,评审

    doi:10.1007/978-3-319-33943-6_17

    authors: Abreu BJ,de Brito Vieira WH

    更新日期:2016-01-01 00:00:00

  • 'Glyco-epitope' assignments for the selectins: advances enabled by the neoglycolipid (NGL) technology in conjunction with synthetic carbohydrate chemistry.

    abstract::The neoglycolipid (NGL) technology involving the preparation of lipid-linked oligosaccharide probes for binding experiments with carbohydrate-recognizing proteins, and their analysis by mass spectrometry, is a unique and powerful means of discovering oligosaccharide ligands for carbohydrate-binding proteins, and assig...

    journal_title:Advances in experimental medicine and biology

    pub_type: 杂志文章,评审

    doi:10.1007/978-1-4615-1267-7_5

    authors: Feizi T

    更新日期:2001-01-01 00:00:00

  • Antibodies and Selection of Monoclonal Antibodies.

    abstract::Monoclonal antibodies are universal binding molecules with a high specificity for their target and are indispensable tools in research, diagnostics and therapy. The biotechnological generation of monoclonal antibodies was enabled by the hybridoma technology published in 1975 by Köhler and Milstein. Today monoclonal an...

    journal_title:Advances in experimental medicine and biology

    pub_type: 杂志文章,评审

    doi:10.1007/978-3-319-32805-8_2

    authors: Hanack K,Messerschmidt K,Listek M

    更新日期:2016-01-01 00:00:00

  • Efficacy of noninvasive volume targeted ventilation in patients with chronic respiratory failure due to kyphoscoliosis.

    abstract::Severe kyphoscoliosis can cause chronic respiratory failure. Noninvasive mechanical ventilation (NIMV) is a new optional treatment for such patients. The aim of this study was to evaluate the effectiveness of average volume-assured pressure support (AVAPS) NIMV in patients with kyphoscoliotic chronic respiratory failu...

    journal_title:Advances in experimental medicine and biology

    pub_type: 杂志文章

    doi:10.1007/5584_2014_68

    authors: Piesiak P,Brzecka A,Kosacka M,Jankowska R

    更新日期:2015-01-01 00:00:00

  • Growth, Nutritional Status, and Pulmonary Function in Children with Chronic Recurrent Bronchitis.

    abstract::Bronchitis is a common health problem in children. Frequent bronchitis in infancy increases the risk of developing chronic respiratory diseases. The aim of the study was to assess the level of growth and the nutritional status in children and youths with special regard to the level of body fatness assessed by measurin...

    journal_title:Advances in experimental medicine and biology

    pub_type: 杂志文章,评审

    doi:10.1007/5584_2015_192

    authors: Umławska W,Lipowicz A

    更新日期:2016-01-01 00:00:00

  • Induction of Apoptosis in Metastatic Breast Cancer Cells: XV. Downregulation of DNA Polymerase-α - Helicase Complex (Replisomes) and Glyco-Genes.

    abstract::In normal and cancer cells, successful cell division requires accurate duplication of chromosomal DNA. All cells require a multiprotein DNA duplication system (replisomes) for their existence. However, death of normal cells in our body occurs through the apoptotic process. During apoptotic process several crucial gene...

    journal_title:Advances in experimental medicine and biology

    pub_type: 杂志文章

    doi:10.1007/978-981-13-3065-0_15

    authors: Basu SC,Boyle P,Ma R,Agarwal A,Basu M,Moskal JR,Banerjee S,Tuteja N

    更新日期:2018-01-01 00:00:00

  • Dynamic interplay between metabolic syndrome and immunity.

    abstract::Obesity and its co-morbidities as metabolic syndrome, type 2 diabetes mellitus and cardiovascular diseases are major health problems worldwide. Several reports indicated that nutrient excess and metabolic syndrome are linked with altered immune response. Indeed, metabolic syndrome is characterized by insulin resistanc...

    journal_title:Advances in experimental medicine and biology

    pub_type: 杂志文章,评审

    doi:10.1007/978-3-319-07320-0_13

    authors: Paragh G,Seres I,Harangi M,Fülöp P

    更新日期:2014-01-01 00:00:00

  • Oncobiome at the Forefront of a Novel Molecular Mechanism to Understand the Microbiome and Cancer.

    abstract::The microbiome comprises all the genetic material within a microbiota, that represents tenfold higher than that of our cells. The microbiota it includes a wide variety of microorganisms such as bacteria, viruses, protozoans, fungi, and archaea, and this ecosystem is personalized in any body space of every individual. ...

    journal_title:Advances in experimental medicine and biology

    pub_type: 杂志文章,评审

    doi:10.1007/978-3-030-24100-1_10

    authors: Astudillo-de la Vega H,Alonso-Luna O,Ali-Pérez J,López-Camarillo C,Ruiz-Garcia E

    更新日期:2019-01-01 00:00:00

  • Avian Egg and Egg Coat.

    abstract::An ovulated egg of vertebrates is surrounded by unique extracellular matrix, the egg coat or zona pellucida, playing important roles in fertilization and early development. The vertebrate egg coat is composed of two to six zona pellucida (ZP) glycoproteins that are characterized by the evolutionarily conserved ZP-doma...

    journal_title:Advances in experimental medicine and biology

    pub_type: 杂志文章

    doi:10.1007/978-981-10-3975-1_5

    authors: Okumura H

    更新日期:2017-01-01 00:00:00

  • Unusual ligand binding at the active site domain of an engineered mutant of subtilisin BL.

    abstract::As an attempt to recruit the third calcium binding site of thermitase into subtilisin BL, a Bacillus lentus alkaline protease (BLAP), the amino acid sequence from position 50 to 60 and position 92 was modified to the equivalent amino acids in thermitase. The resulting protein, designated BLAPm109, exhibited unusual bi...

    journal_title:Advances in experimental medicine and biology

    pub_type: 杂志文章

    doi:10.1007/978-1-4613-0319-0_27

    authors: Paech C,Goddette DW,Christianson T,Wilson CR

    更新日期:1996-01-01 00:00:00

  • Cholesterol-Dependent Gating Effects on Ion Channels.

    abstract::Biomembranes separate a live cell from its environment and keep it in an off-equilibrium, steady state. They contain both phospholipids and nonphospholipids, depending on whether there are phosphate groups in the headgroup regions. Cholesterol (CHOL) is one type of nonphospholipids, and one of the most abundant lipid ...

    journal_title:Advances in experimental medicine and biology

    pub_type: 杂志文章,评审

    doi:10.1007/978-3-030-04278-3_8

    authors: Jiang QX

    更新日期:2019-01-01 00:00:00

  • Incidence and Drug Resistance of Zoonotic Mycobacterium bovis Infection in Peshawar, Pakistan.

    abstract::Prevalence of zoonotic Mycobacterium bovis (bTB) disease in human population is underreported from the North of Pakistan. Here, we report on the proportion of human bTB disease among the overall TB patients, drug resistance pattern of bTB isolates, and knowledge, attitude, and practices (KAP)-based analysis of bTB dis...

    journal_title:Advances in experimental medicine and biology

    pub_type: 杂志文章

    doi:10.1007/5584_2018_170

    authors: Khattak I,Mushtaq MH,Ayaz S,Ali S,Sheed A,Muhammad J,Sohail ML,Amanullah H,Ahmad I,Ur Rahman S

    更新日期:2018-01-01 00:00:00

  • A classification method based on similarity measures of generalized fuzzy numbers in building expert system for postoperative patients.

    abstract::In this research, we concentrate to build an expert system for a problem where task is to determine where patients in a postoperative recovery area should be sent to next. Data set created from postoperative patients is used to build proposed expert system to determine, based on hypothermia condition, whether patients...

    journal_title:Advances in experimental medicine and biology

    pub_type: 杂志文章

    doi:10.1007/978-1-4419-5913-3_1

    authors: Luukka P

    更新日期:2010-01-01 00:00:00